Complete FXN deletion in a patient with Friedreich's ataxia
van den Ouweland, Ans M W, van Minkelen, Rick, Bolman, Galhana M, Wouters, Cokkie H, Becht-Noordermeer, Cindy, Deelen, Wout H, Deelen-Manders, J Marianne C, Ippel, Elly P F, Saris, Jasper, Halley, Dicky J J
Published in Genetic testing and molecular biomarkers (01.09.2012)
Published in Genetic testing and molecular biomarkers (01.09.2012)
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Univerricht‐Lundborg Disease: Underdiagnosed in the Netherlands
De Haan, Gerrit‐Jan, Halley, Dicky J.J., Doelman, Jan C., Geesink, Huibert H., Augustijn, Paul B., Jager‐Jongkind, Anke D., Majoie, Marianne, Bader, Adri J., Doeschate, Lian A.W.M. Leliefeld‐ten, Deelen, Wout H., Bertram, Ed, Lehesjoki, Anna E., Lindhout, Dick
Published in Epilepsia (Copenhagen) (01.09.2004)
Published in Epilepsia (Copenhagen) (01.09.2004)
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The 2373insG mutation in the MYBPC3 gene is a founder mutation, which accounts for nearly one-fourth of the HCM cases in the Netherlands
Alders, Marielle, Jongbloed, Roselie, Deelen, Wout, van den Wijngaard, Arthur, Doevendans, Pieter, Ten Cate, Folkert, Regitz-Zagrosek, Vera, Vosberg, Hans-Peter, van Langen, Irene, Wilde, Arthur, Dooijes, Dennis, Mannens, Marcel
Published in European heart journal (01.10.2003)
Published in European heart journal (01.10.2003)
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A novel tau mutation, S320F, causes a tauopathy with inclusions similar to those in Pick's disease
Rosso, Sonia M., Van Herpen, Esther, Deelen, Wout, Kamphorst, Wouter, Severijnen, Lies-Anne, Willemsen, Rob, Ravid, Rivka, Niermeijer, Martinus F., Dooijes, Dennis, Smith, Michael J., Goedert, Michel, Heutink, Peter, Van Swieten, John C.
Published in Annals of neurology (01.03.2002)
Published in Annals of neurology (01.03.2002)
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Rapid antibody test for prenatal diagnosis of fragile X syndrome on amniotic fluid cells: a new appraisal
Willemsen, R, Los, F, Mohkamsing, S, van den Ouweland, A, Deelen, W, Galjaard, H, Oostra, B
Published in Journal of medical genetics (01.03.1997)
Published in Journal of medical genetics (01.03.1997)
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Prospective prenatal investigations on potential uniparental disomy in cases of confined placental trisomy
Van Opstal, Diane, van den Berg, Cardi, Deelen, Wout H., Brandenburg, Helen, Cohen-Overbeek, Titia E., Halley, Dicky J. J., van den Ouweland, Ans M. W., In 't Veld, Peter A., Los, Frans J.
Published in Prenatal diagnosis (01.01.1998)
Published in Prenatal diagnosis (01.01.1998)
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Positional mapping of loci in the DiGeorge critical region at chromosome 22q11 using a new marker (D22S183)
Mulder, M P, Wilke, M, Langeveld, A, Wilming, L G, Hagemeijer, A, van Drunen, E, Zwarthoff, E C, Riegman, P H, Deelen, W H, van den Ouweland, A M
Published in Human genetics (01.08.1995)
Published in Human genetics (01.08.1995)
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Loss of mutation at the FMR1 locus through multiple exchanges between maternal X chromosomes
van den Ouweland, A M, Deelen, W H, Kunst, C B, Uzielli, M L, Nelson, D L, Warren, S T, Oostra, B A, Halley, D J
Published in Human molecular genetics (01.10.1994)
Published in Human molecular genetics (01.10.1994)
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Founder effect in a Belgian-Dutch fragile X population
Buyle, S, Reyniers, E, Vits, L, De Boulle, K, Handig, I, Wuyts, F L, Deelen, W, Halley, D J, Oostra, B A, Willems, P J
Published in Human genetics (01.10.1993)
Published in Human genetics (01.10.1993)
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Conservation of CGG region in FMR1 gene in mammals
Deelen, W, Bakker, C, Halley, D J, Oostra, B A
Published in American journal of medical genetics (15.07.1994)
Published in American journal of medical genetics (15.07.1994)
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Strategy for reliable prenatal detection of normal male carriers of the fragile X syndrome
Halley, D, Van Den Ouweland, A, Deelen, W, Verma, I, Oostra, B
Published in American journal of medical genetics (15.07.1994)
Published in American journal of medical genetics (15.07.1994)
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DNA diagnosis of the fragile X syndrome in a series of 236 mentally retarded subjects and evidence for a reversal of mutation in the FMR-1 gene
van den Ouweland, A M, de Vries, B B, Bakker, P L, Deelen, W H, de Graaff, E, van Hemel, J O, Oostra, B A, Niermeijer, M F, Halley, D J
Published in American journal of medical genetics (15.07.1994)
Published in American journal of medical genetics (15.07.1994)
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